Bleeding Disorders, Focused Gene Panel, Next-Generation Sequencing, Varies

Casandra

Casandra Test Code MC49267Version 1 (DRAFT)

Performing Lab

Lab Mayo Clinic LabLab Test ID GNBLFCPT Codes 81238, 81265, 81407, 81408, 81479, 88233, 88235, 88240

Bleeding Disorders, Focused Gene Panel, Next-Generation Sequencing, Varies

Clinical Use

Use

This test is useful for evaluating hereditary bleeding in patients with a personal or family history suggestive of a hereditary bleeding disorder and initial laboratory testing results indicative of factors VII, VIII, IX, or XI deficiency, or a von Willebrand disease. It helps in confirming a hereditary bleeding disorder diagnosis by identifying known or suspected disease-causing alterations in six genes associated with such disorders. Furthermore, it aids in determining the disease-causing alterations to delineate the molecular defect in a patient with a laboratory diagnosis of a bleeding disorder, facilitates genetic counseling, prognosis, risk assessment, and carrier testing for family members.

Special Instructions

A systematic diagnosis through conventional coagulation testing is recommended prior to considering genetic testing for any suspected bleeding disorder. Prenatal genetic testing is not routinely performed without prior identification of familial alterations.

Limitations

The test may not detect all genomic variants. Due to technical limitations of the assay, there may be regions that cannot be effectively evaluated by sequencing or deletion and duplication analysis. The test is not designed to detect low levels of mosaicism or to differentiate between somatic and germline variants. It is validated to detect 95% of deletions up to 75 bp and insertions up to 47 bp, but may be less reliable for larger delins.

Test Details

New York Approved